Canonical Allele Identifier: CA355114190

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773492C>A , CM000665.2:g.165773492C>A	GRCh38
NC_000003.11:g.165491280C>A , CM000665.1:g.165491280C>A	GRCh37
NC_000003.10:g.166973974C>A	NCBI36
NG_009031.1:g.68974G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1699G>T MANE Select	ENSP00000264381.3:p.Ala567Ser
ENST00000264381.7:c.1699G>T	ENSP00000264381.3:p.Ala567Ser
ENST00000479451.5:c.289G>T	ENSP00000418325.1:p.Ala97Ser
ENST00000482958.1:c.*205G>T	ENSP00000419804.1:n.*205G>T
ENST00000497011.5:c.*89G>T	ENSP00000419505.1:n.*89G>T
NM_000055.2:c.1699G>T	NP_000046.1:p.Ala567Ser
XM_005247685.1:c.1822G>T	XP_005247742.1:p.Ala608Ser
NM_000055.3:c.1699G>T	NP_000046.1:p.Ala567Ser
NR_137635.1:n.341G>T
NR_137636.1:n.1945G>T
NM_000055.4:c.1699G>T MANE Select	NP_000046.1:p.Ala567Ser
NR_137635.2:n.292G>T
NR_137636.2:n.1896G>T